Canonical Allele Identifier: CA347592202

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874744C>G (hg19) ; chr2:g.88575226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575226C>G , CM000664.2:g.88575226C>G	GRCh38
NC_000002.11:g.88874744C>G , CM000664.1:g.88874744C>G	GRCh37
NC_000002.10:g.88655859C>G	NCBI36
NG_016424.1:g.57351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2085G>C
ENST00000682276.1:n.1702G>C
ENST00000682892.1:c.1804G>C	ENSP00000507214.1:p.Glu602Gln
ENST00000682952.1:n.1896G>C
ENST00000684455.1:c.1470G>C
ENST00000684642.1:c.1654G>C	ENSP00000507355.1:p.Glu552Gln
ENST00000684740.1:n.2435G>C
ENST00000303236.9:c.2257G>C MANE Select	ENSP00000307235.3:p.Glu753Gln
ENST00000652099.1:c.2451G>C
ENST00000652736.1:n.2133G>C
ENST00000303236.7:c.2257G>C	ENSP00000307235.3:p.Glu753Gln
ENST00000415570.1:c.1894G>C	ENSP00000412076.1:p.Glu632Gln
ENST00000419748.5:c.1804G>C	ENSP00000408325.1:p.Glu602Gln
ENST00000470706.1:n.48+135G>C
NM_001313915.1:c.1804G>C	NP_001300844.1:p.Glu602Gln
NM_004836.5:c.2257G>C	NP_004827.4:p.Glu753Gln
NM_004836.6:c.2257G>C	NP_004827.4:p.Glu753Gln
NR_110236.1:n.1363C>G
XM_005264649.3:c.1573G>C	XP_005264706.1:p.Glu525Gln
XM_017005376.2:c.1573G>C	XP_016860865.1:p.Glu525Gln
NM_004836.7:c.2257G>C MANE Select	NP_004827.4:p.Glu753Gln
NM_001313915.2:c.1804G>C	NP_001300844.1:p.Glu602Gln